Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis.
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. Gastrointestinal symptoms, such as pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula, have also been reported sporadically. This is a report describing a patient diagnosed with RTS referred to us because of dysphagia caused by esophageal stenosis. Long-term results of endoscopic dilation are also presented.
Department of Surgical and Gastroenterological Sciences Department of Medical Diagnostic Sciences and Special Therapies, Pathology Unit, Via Giustiniani 2, University of Padova, Padua, Italy. email@example.com
SourceDiseases of the esophagus : official journal of the International Society for Diseases of the Esophagus / I.S.D.E 24:8 2011 Nov pg E41-4
Pub Type(s)Case Reports